Incidental Mutation 'IGL02523:Csl'
ID296938
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Csl
Ensembl Gene ENSMUSG00000046934
Gene Namecitrate synthase like
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.566) question?
Stock #IGL02523
Quality Score
Status
Chromosome10
Chromosomal Location99757706-99759658 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 99758813 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 130 (T130I)
Ref Sequence ENSEMBL: ENSMUSP00000052373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056085]
PDB Structure Substrate induced remodeling of the active site regulates HtrA1 activity [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000056085
AA Change: T130I

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000052373
Gene: ENSMUSG00000046934
AA Change: T130I

DomainStartEndE-ValueType
Pfam:Citrate_synt 71 449 6.2e-119 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217945
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222959
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah1 T C 8: 41,351,947 D109G probably benign Het
Ces2c C A 8: 104,848,114 P68T probably damaging Het
Cyp2g1 C T 7: 26,819,187 R376W probably damaging Het
Ddb1 T C 19: 10,627,632 L1029P probably damaging Het
Dennd4c T C 4: 86,774,253 probably benign Het
Eya2 C T 2: 165,754,436 probably benign Het
Fars2 G T 13: 36,204,693 G55V probably damaging Het
Fcgbp C A 7: 28,104,732 A1755E possibly damaging Het
Ggt7 T A 2: 155,514,703 E32V probably damaging Het
Heg1 C A 16: 33,738,622 T1071K probably damaging Het
Hpca A G 4: 129,118,575 F56S probably damaging Het
Hyal4 T A 6: 24,765,969 Y441N probably damaging Het
Igsf8 T A 1: 172,319,413 probably benign Het
Ints13 A G 6: 146,557,611 S301P probably benign Het
Krt33a G A 11: 100,011,692 T374I probably benign Het
Nav3 T C 10: 109,769,296 D972G probably damaging Het
Npc1 T C 18: 12,201,572 T708A probably benign Het
Olfr1113 A T 2: 87,213,320 N143Y probably benign Het
Olfr214 A T 6: 116,557,093 I223L probably benign Het
Olfr355 T C 2: 36,927,955 D53G probably damaging Het
Olfr62 A T 4: 118,666,041 N175Y probably benign Het
P2rx2 A G 5: 110,342,042 S87P probably damaging Het
Pdxdc1 A T 16: 13,881,935 L62H probably damaging Het
Plekhj1 A T 10: 80,797,849 probably null Het
Ptbp2 A T 3: 119,740,487 Y244* probably null Het
Ralbp1 T C 17: 65,859,091 E366G probably damaging Het
Rergl T A 6: 139,496,460 probably benign Het
Slc25a45 T A 19: 5,884,609 probably null Het
Spop G A 11: 95,485,921 D267N possibly damaging Het
Tars2 T C 3: 95,741,393 D625G probably damaging Het
Tlk2 A G 11: 105,275,947 K593R probably damaging Het
Tlr3 T A 8: 45,398,391 probably null Het
Tmem205 C T 9: 21,921,288 R109H probably benign Het
Tmem41b A G 7: 109,982,728 I56T probably damaging Het
Ube2q2 T C 9: 55,191,879 V168A probably damaging Het
Ufsp2 T A 8: 45,983,548 M112K probably damaging Het
Wipi2 T A 5: 142,661,032 V208E probably damaging Het
Xkr9 A G 1: 13,684,250 E156G probably benign Het
Other mutations in Csl
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1519:Csl UTSW 10 99757955 missense probably damaging 1.00
R2284:Csl UTSW 10 99758459 missense possibly damaging 0.84
R2882:Csl UTSW 10 99758925 missense probably damaging 1.00
R4128:Csl UTSW 10 99758600 missense probably benign 0.02
R4424:Csl UTSW 10 99758591 missense possibly damaging 0.82
R4819:Csl UTSW 10 99758082 missense possibly damaging 0.81
R4876:Csl UTSW 10 99758540 missense possibly damaging 0.93
R5700:Csl UTSW 10 99759015 missense probably damaging 0.97
R6463:Csl UTSW 10 99759098 missense probably damaging 0.99
R8064:Csl UTSW 10 99758545 missense probably damaging 1.00
R8161:Csl UTSW 10 99758320 missense probably damaging 1.00
R8296:Csl UTSW 10 99758299 missense probably damaging 1.00
R8317:Csl UTSW 10 99759038 missense probably damaging 1.00
R8696:Csl UTSW 10 99758964 missense probably damaging 1.00
Posted On2015-04-16